Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52027995G= , CM000666.2:g.52027995G= | GRCh38 |
| NC_000004.11:g.52894161G= , CM000666.1:g.52894161G= | GRCh37 |
| NC_000004.10:g.52588918G= | NCBI36 |
| NG_008891.1:g.15325C= , LRG_204:g.15325C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.726C= MANE Select | ENSP00000370839.6:p.His242= | |
| ENST00000381431.9:c.726C= | ENSP00000370839.5:p.His242= | |
| NM_000232.4:c.726C= , LRG_204t1:c.726C= | NP_000223.1:p.His242= | |
| XM_006714049.2:c.429C= | XP_006714112.1:p.His143= | |
| XM_011534403.1:c.516C= | XP_011532705.1:p.His172= | |
| XM_011534404.1:c.429C= | XP_011532706.1:p.His143= | |
| NM_000232.5:c.726C= MANE Select | NP_000223.1:p.His242= |